Linked Data
ClinVar Variation Id:
2746722
ClinVar RCV Id:
RCV003563199
dbSNP Id:
rs1327148291
gnomAD v2:
16-58752594-TA-T
gnomAD v3:
16-58718690-TA-T
gnomAD v4:
16-58718690-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58718694del , CM000678.2:g.58718694del | GRCh38 |
| NC_000016.9:g.58752598del , CM000678.1:g.58752598del | GRCh37 |
| NC_000016.8:g.57310099del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.436-3del MANE Select | ENSP00000245206.5:n.436-3del | |
| ENST00000245206.9:c.436-3del | ENSP00000245206.5:n.436-3del | |
| ENST00000434819.2:c.307-3del | ENSP00000394100.2:n.307-3del | |
| ENST00000496461.5:n.510-3del | ||
| ENST00000564400.5:n.550-3del | ||
| ENST00000568368.1:c.*130-3del | ENSP00000456205.1:n.*130-3del | |
| NM_001286220.1:c.307-3del | NP_001273149.1:n.307-3del | |
| NM_002080.3:c.436-3del | NP_002071.2:n.436-3del | |
| NM_002080.4:c.436-3del MANE Select | NP_002071.2:n.436-3del | |
| NM_001286220.2:c.307-3del | NP_001273149.1:n.307-3del |